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Fingerprint Dive into the research topics where Ilene Chiu is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Hearing Loss Medicine & Life Sciences
Mutation Medicine & Life Sciences
GPI-Linked Proteins Medicine & Life Sciences
Lysine-tRNA Ligase Medicine & Life Sciences
Hearing Medicine & Life Sciences
Pakistan Medicine & Life Sciences
Zebrafish Medicine & Life Sciences
Recessive Genes Medicine & Life Sciences

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Research Output 2013 2019

  • 94 Citations
  • 3 h-Index
  • 5 Article
  • 1 Letter

Delayed Diagnosis of Giant Cell Arteritis in the Setting of Isolated Lingual Necrosis

DeBord, L. C., Chiu, I. & Liou, N. E., Jun 1 2019, In : Clinical Medicine Insights: Case Reports. 12

Research output: Contribution to journalArticle

Open Access
Giant Cell Arteritis
Delayed Diagnosis
Tongue
Necrosis
Temporal Arteries
1 Citation (Scopus)

Novel missense and 3′-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

Liaqat, K., Chiu, I., Lee, K., Chakchouk, I., Andrade-Elizondo, P. B., Santos-Cortez, R. L. P., Hussain, S., Nawaz, S., Ansar, M., Khan, M. N., Basit, S., Schrauwen, I., Ahmad, W. & Leal, S. M., Nov 1 2018, In : Journal of Human Genetics. 63, 11, p. 1099-1107 9 p.

Research output: Contribution to journalArticle

3' Untranslated Regions
RNA Splice Sites
RNA Precursors
Activation Analysis
Computational Biology
25 Citations (Scopus)

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Santos-Cortez, R. L. P., Lee, K., Giese, A. P., Ansar, M., Amin-Ud-Din, M., Rehn, K., Wang, X., Aziz, A., Chiu, I., Ali, R. H., Smith, J. D., Shendure, J., Bamshad, M., Nickerson, D. A., Ahmed, Z. M., Ahmad, W., Riazuddin, S. & Leal, S. M., Jan 1 2014, In : Human Molecular Genetics. 23, 12, p. 3289-3298 10 p.

Research output: Contribution to journalArticle

Zebrafish
Hearing Loss
Adenylyl Cyclases
Hearing
Inner Ear
3 Citations (Scopus)

A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus)

Probst, F. J., Corrigan, R. R., Del Gaudio, D., Salinger, A. P., Lorenzo, I., Gao, S. S., Chiu, I., Xia, A., Oghalai, J. S. & Justice, M. J., Nov 26 2013, In : PLoS One. 8, 11, e80408.

Research output: Contribution to journalArticle

Glycosylation
Asparagine
Audition
hearing
Mus musculus
59 Citations (Scopus)

Mutations in KARS, encoding Lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

Santos-Cortez, R. L. P., Lee, K., Azeem, Z., Antonellis, P. J., Pollock, L. M., Khan, S., Irfanullah, Andrade-Elizondo, P. B., Chiu, I., Adams, M. D., Basit, S., Smith, J. D., Nickerson, D. A., McDermott, B. M., Ahmad, W. & Leal, S. M., Jul 11 2013, In : American Journal of Human Genetics. 93, 1, p. 132-140 9 p.

Research output: Contribution to journalArticle

Lysine-tRNA Ligase
Mutation
Spiral Ligament of Cochlea
Basilar Membrane
Exome